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    ZNF138 zinc finger protein 138 [ Homo sapiens (human) ]

    Gene ID: 7697, updated on 2-Nov-2024

    Summary

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    Official Symbol
    ZNF138provided by HGNC
    Official Full Name
    zinc finger protein 138provided by HGNC
    Primary source
    HGNC:HGNC:12922
    See related
    Ensembl:ENSG00000197008 MIM:604080; AllianceGenome:HGNC:12922
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    pHZ-32
    Summary
    Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in membrane and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in brain (RPKM 2.7), testis (RPKM 2.2) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See ZNF138 in Genome Data Viewer
    Location:
    7q11.21
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (64794428..64860823)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (66001955..66067000)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (64254806..64321201)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene zinc finger protein 107 Neighboring gene BCL2 interacting protein 3 pseudogene 11 Neighboring gene microRNA 6839 Neighboring gene myelin protein zero like 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26063 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:64254846-64255406 Neighboring gene CRISPRi-validated cis-regulatory element chr7.2319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:64315844-64316400 Neighboring gene selenophosphate synthetase 1 pseudogene 1 Neighboring gene eukaryotic translation elongation factor 1 delta pseudogene 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:64348006-64348724 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:64348725-64349442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:64350161-64350877 Neighboring gene uncharacterized LOC441239 Neighboring gene zinc finger protein 273

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Genome-wide and candidate gene association study of cigarette smoking behaviors. Caporaso N, et al. PLoS One, 2009. PMID 19247474, Free PMC Article
    2. Isolation and fine mapping of 16 novel human zinc finger-encoding cDNAs identify putative candidate genes for developmental and malignant disorders. Tommerup N, et al. Genomics, 1995 May 20. PMID 7557990
    3. The interactome of KRAB zinc finger proteins reveals the evolutionary history of their functional diversification. Helleboid PY, et al. EMBO J, 2019 Sep 16. PMID 31403225, Free PMC Article
    4. N(6)-Methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation. Cheng Y, et al. Cancer Cell, 2021 Jul 12. PMID 34048709, Free PMC Article
    5. Systematic identification of pathological lamin A interactors. Dittmer TA, et al. Mol Biol Cell, 2014 May. PMID 24623722, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp761D2121

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    zinc finger protein 138
    Names
    zinc finger protein 138 (clone pHZ-32)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001160183.3 → NP_001153655.1  zinc finger protein 138 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) includes two alternate exons in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC073349
      Consensus CDS
      CCDS55115.1
      UniProtKB/TrEMBL
      A0A0A0MT90
      Related
      ENSP00000419197.1, ENST00000494380.5
      Conserved Domains (2) summary
      smart00349
      Location:4 → 57
      KRAB; krueppel associated box
      pfam01352
      Location:4 → 43
      KRAB; KRAB box

    2. NM_001271637.2 → NP_001258566.1  zinc finger protein 138 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) includes an alternate exon, which results in a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC073349
      Consensus CDS
      CCDS64659.1
      UniProtKB/TrEMBL
      C9JHF6
      Related
      ENSP00000415995.1, ENST00000440598.2
      Conserved Domains (2) summary
      smart00349
      Location:4 → 50
      KRAB; krueppel associated box
      pfam01352
      Location:4 → 43
      KRAB; KRAB box

    3. NM_001271638.2 → NP_001258567.2  zinc finger protein 138 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (6) includes an alternate exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (5) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC073349
      Consensus CDS
      CCDS64661.1
      UniProtKB/TrEMBL
      E7EWC5
      Related
      ENSP00000399528.1, ENST00000437743.1

    4. NM_001271639.2 → NP_001258568.2  zinc finger protein 138 isoform 6

      Status: VALIDATED

      Description
      Transcript Variant: This variant (7) includes an alternate in-frame exon, compared to variant 1. The encoded isoform (6) is longer than isoform 1.
      Source sequence(s)
      AC073349
      Consensus CDS
      CCDS64660.1
      UniProtKB/TrEMBL
      J3QSS9
      Related
      ENSP00000303533.7, ENST00000307355.12

    5. NM_001271640.2 → NP_001258569.1  zinc finger protein 138 isoform 7

      Status: VALIDATED

      Description
      Transcript Variant: This variant (9) includes an alternate exon in the 3' coding region, which results in a frameshift, compared to variant 1. The resulting isoform (7) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC073349
      Consensus CDS
      CCDS75607.1
      UniProtKB/TrEMBL
      A0A0A0MRG3
      Related
      ENSP00000352770.4, ENST00000359735.7
      Conserved Domains (2) summary
      smart00349
      Location:4 → 43
      KRAB; krueppel associated box
      pfam01352
      Location:4 → 43
      KRAB; KRAB box

    6. NM_001271649.2 → NP_001258578.1  zinc finger protein 138 isoform 4

      See identical proteins and their annotated locations for NP_001258578.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks an alternate coding exon, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (4) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC073349
      UniProtKB/TrEMBL
      A2RRP7
      Related
      ENST00000430838.2
      Conserved Domains (2) summary
      COG5189
      Location:72 → 155
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:50 → 70
      ZF_C2H2; C2H2 Zn finger [structural motif]

    7. NM_001367572.1 → NP_001354501.1  zinc finger protein 138 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC073349
      UniProtKB/Swiss-Prot
      B4DFX2, B4DP87, E9PHI7, E9PHK7, P52744

    8. NM_001367573.1 → NP_001354502.1  zinc finger protein 138 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC073349

    9. NM_001367574.1 → NP_001354503.1  zinc finger protein 138 isoform 10

      Status: VALIDATED

      Description
      Transcript Variant: This variant (12), as well as variant 13, encodes isoform 10.
      Source sequence(s)
      AC073349

    10. NM_001367575.1 → NP_001354504.1  zinc finger protein 138 isoform 10

      Status: VALIDATED

      Description
      Transcript Variant: This variant (13), as well as variant 12, encodes isoform 10.
      Source sequence(s)
      AC073349

    11. NM_001367576.1 → NP_001354505.1  zinc finger protein 138 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC073349

    12. NM_001367577.1 → NP_001354506.1  zinc finger protein 138 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC073349

    13. NM_006524.4 → NP_006515.3  zinc finger protein 138 isoform 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes isoform 1.
      Source sequence(s)
      AC073349
      Consensus CDS
      CCDS34645.2
      Related
      ENSP00000407262.2, ENST00000440155.6

    RNA

    1. NR_073389.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks an exon, and includes an alternate 3' exon, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      AC073349

    2. NR_073391.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (8) includes two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC073349

    3. NR_160268.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC073349

    4. NR_160269.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC073349

    5. NR_160270.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC073349

    6. NR_160271.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC073349

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      64794428..64860823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420816.1 → XP_047276772.1  zinc finger protein 138 isoform X6

      UniProtKB/TrEMBL
      C9JHF6

    2. XM_047420814.1 → XP_047276770.1  zinc finger protein 138 isoform X5

    3. XM_047420815.1 → XP_047276771.1  zinc finger protein 138 isoform X5

    4. XM_047420811.1 → XP_047276767.1  zinc finger protein 138 isoform X3

    5. XM_047420812.1 → XP_047276768.1  zinc finger protein 138 isoform X4

    6. XM_047420808.1 → XP_047276764.1  zinc finger protein 138 isoform X1

    7. XM_047420813.1 → XP_047276769.1  zinc finger protein 138 isoform X8

    8. XM_047420810.1 → XP_047276766.1  zinc finger protein 138 isoform X2

    9. XM_047420809.1 → XP_047276765.1  zinc finger protein 138 isoform X7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      66001955..66067000
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358955.1 → XP_054214930.1  zinc finger protein 138 isoform X11

    2. XM_054358967.1 → XP_054214942.1  zinc finger protein 138 isoform X6

      UniProtKB/TrEMBL
      C9JHF6

    3. XM_054358956.1 → XP_054214931.1  zinc finger protein 138 isoform X11

    4. XM_054358957.1 → XP_054214932.1  zinc finger protein 138 isoform X11

    5. XM_054358965.1 → XP_054214940.1  zinc finger protein 138 isoform X5

    6. XM_054358966.1 → XP_054214941.1  zinc finger protein 138 isoform X5

    7. XM_054358963.1 → XP_054214938.1  zinc finger protein 138 isoform X13

    8. XM_054358964.1 → XP_054214939.1  zinc finger protein 138 isoform X5

    9. XM_054358960.1 → XP_054214935.1  zinc finger protein 138 isoform X3

    10. XM_054358962.1 → XP_054214937.1  zinc finger protein 138 isoform X4

    11. XM_054358953.1 → XP_054214928.1  zinc finger protein 138 isoform X9

    12. XM_054358958.1 → XP_054214933.1  zinc finger protein 138 isoform X1

    13. XM_054358961.1 → XP_054214936.1  zinc finger protein 138 isoform X12

    14. XM_054358959.1 → XP_054214934.1  zinc finger protein 138 isoform X2

    15. XM_054358954.1 → XP_054214929.1  zinc finger protein 138 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52744.2 GenPept UniProtKB/Swiss-Prot:P52744

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